Varaico: Literature-Extracted Genetic Variants

Gene:SCYL1
Variant:p.S462_T463Splc

SCYL1

153 papers

RefSeq Summary

This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inacti...

Pfam Domains

Pkinaseaa 31–236UCSCProtein kinase domain

Gene Aliases

HGNC Name

SCY1 like pseudokinase 1

HGNC Previous Symbol

NTKL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_020680.4
p.S462_T463Splc
c.1386+1G>T
Surrounding Variants
2 papers
NM_020680.4
p.S462_T463Splc
c.1386+1G>A
2 papers
NM_020680.4
p.S462_T463Splc
c.1386+2T>C
1 paper
NM_020680.4
p.A461D
c.1382C>A
1 paper
NM_020680.4
p.G456S
c.1366G>A
1 paper
NM_020680.4
p.T449delFs
c.1346_1347delCA
1 paper
NM_020680.4
p.K438E
c.1312A>G
1 paper
NM_020680.4
p.F432_A433ins16
c.1294_1298ins48
1 paper
NM_020680.4
p.M429I
c.1287G>A
1 paper
NM_020680.4
p.M429I
c.1287G>C
1 paper
NM_020680.4
p.M429I
c.1287G>T
1 paper
NM_020680.4
p.R474*
c.1420C>T
3 papers
NM_020680.4
p.D478G
c.1433A>G
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